| Gene information | Literature | Expression | lncRNA | Mutation | Homolog |
Basic Information | |
|---|---|
Gene ID | 5364 |
Name | PLXNB1 |
Synonymous | plexin B1;PLXNB1;plexin B1 |
Definition | plexin 5|plexin-B1|semaphorin receptor SEP |
Position | 3p21.31 |
Gene Type | protein-coding |
COSMIC confirmed somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1172C>T; p.P391L; 3:48422883-48422883 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.3850A>G; p.R1284G; 3:48415292-48415292 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1686G>A; p.L562L; 3:48421352-48421352 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.5672A>T; p.D1891V; 3:48410011-48410011 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1529G>A; p.R510H; 3:48421798-48421798 |
breast | carcinoma | Substitution - Missense |
c.4918_4919delCT; p.L1640fs*10; 3:48412556-48412557 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Deletion - Frameshift |
c.4848C>T; p.L1616L; 3:48412748-48412748 |
breast | carcinoma | Substitution - coding silent |
c.3085T>A; p.C1029S; 3:48418328-48418328 |
breast | carcinoma | Substitution - Missense |
c.3372C>T; p.S1124S; 3:48417913-48417913 |
breast | carcinoma | Substitution - coding silent |
c.5135G>A; p.R1712Q; 3:48411975-48411975 |
breast | carcinoma | Substitution - Missense |
c.4634C>T; p.T1545I; 3:48413071-48413071 |
breast | carcinoma | Substitution - Missense |
c.4261G>C; p.G1421R; 3:48414020-48414020 |
breast | carcinoma | Substitution - Missense |
c.2485C>G; p.P829A; 3:48419801-48419801 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.707A>G; p.D236G; 3:48423905-48423905 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1892C>T; p.A631V; 3:48420875-48420875 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.1655T>G; p.V552G; 3:48421383-48421383 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1506C>T; p.C502C; 3:48422119-48422119 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.6021G>A; p.A2007A; 3:48409395-48409395 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3814G>A; p.V1272I; 3:48415328-48415328 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1858G>A; p.A620T; 3:48420909-48420909 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3846G>A; p.T1282T; 3:48415296-48415296 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.5991C>T; p.F1997F; 3:48409425-48409425 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.5401C>T; p.R1801C; 3:48410883-48410883 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5495G>A; p.R1832H; 3:48410480-48410480 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4610G>A; p.R1537Q; 3:48413095-48413095 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3160C>T; p.R1054W; 3:48418253-48418253 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1668G>A; p.V556V; 3:48421370-48421370 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3817C>T; p.R1273C; 3:48415325-48415325 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3802C>T; p.R1268C; 3:48415340-48415340 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.264C>T; p.C88C; 3:48424348-48424348 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3465C>T; p.H1155H; 3:48416361-48416361 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.241C>T; p.P81S; 3:48424371-48424371 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2757T>G; p.V919V; 3:48419319-48419319 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3206C>T; p.A1069V; 3:48418207-48418207 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1632C>T; p.I544I; 3:48421695-48421695 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1653G>T; p.E551D; 3:48421674-48421674 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5844G>A; p.P1948P; 3:48409666-48409666 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.5951G>A; p.R1984K; 3:48409465-48409465 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1718G>T; p.G573V; 3:48421320-48421320 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3385A>G; p.I1129V; 3:48416441-48416441 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1244G>T; p.G415V; 3:48422811-48422811 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.5463T>A; p.D1821E; 3:48410512-48410512 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.3049G>T; p.V1017L; 3:48418449-48418449 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.5457C>T; p.D1819D; 3:48410518-48410518 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.6020C>T; p.A2007V; 3:48409396-48409396 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.5605+1G>A; p.?; 3:48410295-48410295 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Unknown |
c.4753T>G; p.L1585V; 3:48412843-48412843 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.5366A>T; p.Y1789F; 3:48410918-48410918 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.16C>T; p.P6S; 3:48424596-48424596 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.1416C>A; p.S472R; 3:48422334-48422334 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.736G>A; p.A246T; 3:48423876-48423876 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.2329G>C; p.D777H; 3:48419957-48419957 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2942G>A; p.C981Y; 3:48418930-48418930 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3758A>G; p.N1253S; 3:48415619-48415619 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2660T>C; p.L887P; 3:48419626-48419626 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3321G>T; p.T1107T; 3:48417964-48417964 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.629G>A; p.R210H; 3:48423983-48423983 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.398G>A; p.R133Q; 3:48424214-48424214 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5839G>A; p.V1947M; 3:48409671-48409671 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.27C>A; p.L9L; 3:48424585-48424585 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3914G>A; p.R1305H; 3:48415228-48415228 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1547G>A; p.R516K; 3:48421780-48421780 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.536delG; p.G179fs*41; 3:48424076-48424076 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.536delG; p.G179fs*41; 3:48424076-48424076 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.536delG; p.G179fs*41; 3:48424076-48424076 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.536delG; p.G179fs*41; 3:48424076-48424076 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.536delG; p.G179fs*41; 3:48424076-48424076 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.536delG; p.G179fs*41; 3:48424076-48424076 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.536delG; p.G179fs*41; 3:48424076-48424076 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1832A>G; p.E611G; 3:48420935-48420935 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3109C>T; p.P1037S; 3:48418304-48418304 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.703C>A; p.R235R; 3:48423909-48423909 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3091C>T; p.R1031C; 3:48418322-48418322 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1815C>T; p.Y605Y; 3:48420952-48420952 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5274G>A; p.G1758G; 3:48411010-48411010 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5783C>T; p.T1928I; 3:48409727-48409727 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6176C>T; p.T2059I; 3:48406875-48406875 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2421C>A; p.P807P; 3:48419865-48419865 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4717G>T; p.E1573*; 3:48412879-48412879 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3007C>T; p.R1003W; 3:48418491-48418491 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4789C>T; p.P1597S; 3:48412807-48412807 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5155G>T; p.D1719Y; 3:48411955-48411955 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5947C>A; p.L1983M; 3:48409469-48409469 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5495G>A; p.R1832H; 3:48410480-48410480 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2380C>T; p.P794S; 3:48419906-48419906 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.702G>A; p.R234R; 3:48423910-48423910 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.325G>T; p.V109L; 3:48424287-48424287 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2896C>T; p.R966W; 3:48418976-48418976 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4568A>G; p.K1523R; 3:48413137-48413137 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1468T>C; p.S490P; 3:48422157-48422157 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5784C>G; p.T1928T; 3:48409726-48409726 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1636C>T; p.R546*; 3:48421691-48421691 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4013G>A; p.R1338H; 3:48414995-48414995 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4749G>A; p.S1583S; 3:48412847-48412847 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4749G>A; p.S1583S; 3:48412847-48412847 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4901G>A; p.R1634H; 3:48412574-48412574 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2547G>A; p.L849L; 3:48419739-48419739 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5040_5041delGA; p.E1680fs*35; 3:48412297-48412298 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2114C>A; p.A705D; 3:48420172-48420172 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4270C>A; p.P1424T; 3:48414011-48414011 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4054C>T; p.R1352W; 3:48414954-48414954 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2293_2294insC; p.Q765fs*13; 3:48419992-48419993 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.268delC; p.Q90fs*14; 3:48424344-48424344 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.909delC; p.T304fs*102; 3:48423703-48423703 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.909delC; p.T304fs*102; 3:48423703-48423703 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4898A>G; p.D1633G; 3:48412577-48412577 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.909delC; p.T304fs*102; 3:48423703-48423703 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3295G>A; p.V1099M; 3:48417990-48417990 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2448G>T; p.L816L; 3:48419838-48419838 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4811G>A; p.G1604E; 3:48412785-48412785 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3222G>A; p.S1074S; 3:48418191-48418191 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1556G>A; p.G519D; 3:48421771-48421771 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4956C>T; p.F1652F; 3:48412519-48412519 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2255G>C; p.G752A; 3:48420031-48420031 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.6020C>T; p.A2007V; 3:48409396-48409396 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.565C>A; p.L189M; 3:48424047-48424047 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.6131G>A; p.R2044Q; 3:48407048-48407048 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4926C>T; p.T1642T; 3:48412549-48412549 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5995G>A; p.V1999M; 3:48409421-48409421 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.399G>A; p.R133R; 3:48424213-48424213 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4389G>T; p.V1463V; 3:48413816-48413816 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4389G>T; p.V1463V; 3:48413816-48413816 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4389G>T; p.V1463V; 3:48413816-48413816 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1622C>A; p.P541H; 3:48421705-48421705 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4233G>A; p.M1411I; 3:48414048-48414048 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4713T>C; p.Y1571Y; 3:48412883-48412883 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5030G>A; p.R1677H; 3:48412445-48412445 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2892G>T; p.E964D; 3:48418980-48418980 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4062A>G; p.E1354E; 3:48414946-48414946 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2452C>A; p.L818M; 3:48419834-48419834 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1172C>T; p.P391L; 3:48422883-48422883 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.795T>C; p.P265P; 3:48423817-48423817 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.795T>C; p.P265P; 3:48423817-48423817 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5809T>C; p.F1937L; 3:48409701-48409701 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4613A>G; p.D1538G; 3:48413092-48413092 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4880G>A; p.R1627H; 3:48412595-48412595 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4510G>T; p.V1504F; 3:48413695-48413695 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5710C>T; p.R1904W; 3:48409973-48409973 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.6095C>T; p.P2032L; 3:48407084-48407084 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5730C>T; p.R1910R; 3:48409953-48409953 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4437C>T; p.G1479G; 3:48413768-48413768 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4437C>T; p.G1479G; 3:48413768-48413768 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4437C>T; p.G1479G; 3:48413768-48413768 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1940G>C; p.S647T; 3:48420753-48420753 |
liver | carcinoma | Substitution - Missense |
c.1940G>C; p.S647T; 3:48420753-48420753 |
liver | carcinoma | Substitution - Missense |
c.4462G>T; p.A1488S; 3:48413743-48413743 |
liver | carcinoma | Substitution - Missense |
c.4462G>T; p.A1488S; 3:48413743-48413743 |
liver | carcinoma | Substitution - Missense |
c.1255G>A; p.A419T; 3:48422800-48422800 |
liver | carcinoma | Substitution - Missense |
c.1255G>A; p.A419T; 3:48422800-48422800 |
liver | carcinoma | Substitution - Missense |
c.5374G>C; p.V1792L; 3:48410910-48410910 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.5374G>C; p.V1792L; 3:48410910-48410910 |
liver | carcinoma | Substitution - Missense |
c.3156G>T; p.V1052V; 3:48418257-48418257 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.917G>T; p.G306V; 3:48423695-48423695 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4721G>C; p.R1574T; 3:48412875-48412875 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1280A>T; p.Q427L; 3:48422775-48422775 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5567A>G; p.H1856R; 3:48410334-48410334 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.375G>T; p.G125G; 3:48424237-48424237 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.641A>T; p.Y214F; 3:48423971-48423971 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3095G>T; p.C1032F; 3:48418318-48418318 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1763G>C; p.C588S; 3:48421275-48421275 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5206G>A; p.D1736N; 3:48411904-48411904 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6138G>A; p.K2046K; 3:48407041-48407041 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2609C>T; p.S870L; 3:48419677-48419677 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.5303C>T; p.P1768L; 3:48410981-48410981 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3925G>C; p.E1309Q; 3:48415217-48415217 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5871G>C; p.L1957L; 3:48409639-48409639 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.978G>A; p.L326L; 3:48423634-48423634 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1290G>T; p.R430S; 3:48422765-48422765 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1290G>T; p.R430S; 3:48422765-48422765 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4787G>T; p.R1596L; 3:48412809-48412809 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4900C>T; p.R1634C; 3:48412575-48412575 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3449G>T; p.R1150L; 3:48416377-48416377 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4914A>G; p.A1638A; 3:48412561-48412561 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.706G>T; p.D236Y; 3:48423906-48423906 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3329G>C; p.G1110A; 3:48417956-48417956 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3194C>A; p.T1065N; 3:48418219-48418219 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.891C>G; p.F297L; 3:48423721-48423721 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6007G>C; p.D2003H; 3:48409409-48409409 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4021G>T; p.A1341S; 3:48414987-48414987 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2299G>A; p.G767R; 3:48419987-48419987 |
NS | malignant_melanoma | Substitution - Missense |
c.4753T>G; p.L1585V; 3:48412843-48412843 |
NS | malignant_melanoma | Substitution - Missense |
c.5939G>T; p.S1980I; 3:48409571-48409571 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.3904C>T; p.R1302W; 3:48415238-48415238 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3206C>T; p.A1069V; 3:48418207-48418207 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.3654G>C; p.E1218D; 3:48415723-48415723 |
oesophagus | carcinoma | Substitution - Missense |
c.3910C>T; p.R1304C; 3:48415232-48415232 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.5279G>C; p.G1760A; 3:48411005-48411005 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.5949G>C; p.L1983L; 3:48409467-48409467 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.2656A>G; p.I886V; 3:48419630-48419630 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.4569G>T; p.K1523N; 3:48413136-48413136 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.3352C>T; p.Q1118*; 3:48417933-48417933 |
pancreas | carcinoma | Substitution - Nonsense |
c.2109C>A; p.T703T; 3:48420177-48420177 |
pancreas | carcinoma | Substitution - coding silent |
c.5432T>G; p.V1811G; 3:48410543-48410543 |
pancreas | carcinoma; adenocarcinoma | Substitution - Missense |
c.1098G>A; p.Q366Q; 3:48423514-48423514 |
pancreas | carcinoma | Substitution - coding silent |
c.1098G>A; p.Q366Q; 3:48423514-48423514 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.6092C>T; p.S2031F; 3:48407087-48407087 |
pancreas | carcinoma | Substitution - Missense |
c.6092C>T; p.S2031F; 3:48407087-48407087 |
pancreas | carcinoma | Substitution - Missense |
c.1605A>G; p.Q535Q; 3:48421722-48421722 |
pancreas | carcinoma | Substitution - coding silent |
c.3145C>T; p.P1049S; 3:48418268-48418268 |
pancreas | carcinoma | Substitution - Missense |
c.1916C>T; p.A639V; 3:48420851-48420851 |
pancreas | NS | Substitution - Missense |
c.1855A>G; p.I619V; 3:48420912-48420912 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.2600C>T; p.T867I; 3:48419686-48419686 |
prostate | carcinoma | Substitution - Missense |
c.761G>A; p.R254Q; 3:48423851-48423851 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.809G>T; p.G270V; 3:48423803-48423803 |
prostate | adenoma | Substitution - Missense |
c.531delG; p.G179fs*41; 3:48424081-48424081 |
prostate | carcinoma | Deletion - Frameshift |
c.5199C>G; p.T1733T; 3:48411911-48411911 |
prostate | carcinoma | Substitution - coding silent |
c.6246C>T; p.L2082L; 3:48405781-48405781 |
salivary_gland; tongue | carcinoma; adenoid_cystic_carcinoma | Substitution - coding silent |
c.4901G>C; p.R1634P; 3:48412574-48412574 |
salivary_gland | carcinoma; adenoid_cystic_carcinoma | Substitution - Missense |
c.1717G>A; p.G573R; 3:48421321-48421321 |
skin | malignant_melanoma | Substitution - Missense |
c.3389_3390CC>TT; p.T1130I; 3:48416436-48416437 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2241C>T; p.S747S; 3:48420045-48420045 |
skin | malignant_melanoma | Substitution - coding silent |
c.1126C>T; p.P376S; 3:48422929-48422929 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2318C>A; p.P773H; 3:48419968-48419968 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2300G>A; p.G767E; 3:48419986-48419986 |
skin | malignant_melanoma | Substitution - Missense |
c.2986C>T; p.R996C; 3:48418512-48418512 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2192C>T; p.S731F; 3:48420094-48420094 |
skin | malignant_melanoma | Substitution - Missense |
c.2824C>T; p.L942F; 3:48419252-48419252 |
skin | malignant_melanoma | Substitution - Missense |
c.3105C>T; p.A1035A; 3:48418308-48418308 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3492C>T; p.V1164V; 3:48416156-48416156 |
skin | malignant_melanoma | Substitution - coding silent |
c.4414C>T; p.L1472L; 3:48413791-48413791 |
skin | malignant_melanoma | Substitution - coding silent |
c.5145G>A; p.K1715K; 3:48411965-48411965 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.974C>T; p.P325L; 3:48423638-48423638 |
skin | malignant_melanoma | Substitution - Missense |
c.5432T>G; p.V1811G; 3:48410543-48410543 |
skin | malignant_melanoma | Substitution - Missense |
c.5432T>G; p.V1811G; 3:48410543-48410543 |
skin | malignant_melanoma | Substitution - Missense |
c.759C>T; p.L253L; 3:48423853-48423853 |
skin | malignant_melanoma | Substitution - coding silent |
c.5838C>T; p.P1946P; 3:48409672-48409672 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.5401C>T; p.R1801C; 3:48410883-48410883 |
skin | malignant_melanoma | Substitution - Missense |
c.3907A>T; p.R1303W; 3:48415235-48415235 |
skin | malignant_melanoma | Substitution - Missense |
c.1432C>T; p.P478S; 3:48422193-48422193 |
skin | malignant_melanoma | Substitution - Missense |
c.4318C>T; p.P1440S; 3:48413963-48413963 |
skin | malignant_melanoma | Substitution - Missense |
c.2782C>T; p.H928Y; 3:48419294-48419294 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.485G>A; p.G162E; 3:48424127-48424127 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.5134C>T; p.R1712*; 3:48411976-48411976 |
skin; mucosal | malignant_melanoma | Substitution - Nonsense |
c.4665C>T; p.T1555T; 3:48412931-48412931 |
skin | malignant_melanoma | Substitution - coding silent |
c.2776C>T; p.P926S; 3:48419300-48419300 |
skin | malignant_melanoma | Substitution - Missense |
c.2662C>T; p.P888S; 3:48419624-48419624 |
skin | malignant_melanoma | Substitution - Missense |
c.5584C>T; p.Q1862*; 3:48410317-48410317 |
skin; trunk | malignant_melanoma; nodular | Substitution - Nonsense |
c.4555C>T; p.L1519L; 3:48413150-48413150 |
skin | malignant_melanoma | Substitution - coding silent |
c.5155G>A; p.D1719N; 3:48411955-48411955 |
skin | malignant_melanoma | Substitution - Missense |
c.3712G>A; p.E1238K; 3:48415665-48415665 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2431C>T; p.H811Y; 3:48419855-48419855 |
skin | malignant_melanoma | Substitution - Missense |
c.4210-3C>T; p.?; 3:48414074-48414074 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.856G>T; p.E286*; 3:48423756-48423756 |
skin | malignant_melanoma | Substitution - Nonsense |
c.4686C>T; p.G1562G; 3:48412910-48412910 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.5105C>T; p.S1702F; 3:48412005-48412005 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5105C>T; p.S1702F; 3:48412005-48412005 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5105C>T; p.S1702F; 3:48412005-48412005 |
skin | malignant_melanoma | Substitution - Missense |
c.3465C>T; p.H1155H; 3:48416361-48416361 |
skin | malignant_melanoma | Substitution - coding silent |
c.5928G>A; p.W1976*; 3:48409582-48409582 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1102C>G; p.P368A; 3:48423510-48423510 |
skin | malignant_melanoma | Substitution - Missense |
c.2800C>T; p.R934W; 3:48419276-48419276 |
skin | malignant_melanoma | Substitution - Missense |
c.2470C>T; p.P824S; 3:48419816-48419816 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3378C>T; p.L1126L; 3:48416448-48416448 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.210C>T; p.T70T; 3:48424402-48424402 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.5434_5435insG; p.A1812fs*8; 3:48410540-48410541 |
skin | malignant_melanoma | Insertion - Frameshift |
c.5143A>T; p.K1715*; 3:48411967-48411967 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2659C>T; p.L887F; 3:48419627-48419627 |
skin | malignant_melanoma | Substitution - Missense |
c.2985_2986CC>TT; p.R996C; 3:48418512-48418513 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4660C>T; p.L1554F; 3:48412936-48412936 |
skin | malignant_melanoma | Substitution - Missense |
c.5551C>T; p.P1851S; 3:48410350-48410350 |
skin | malignant_melanoma | Substitution - Missense |
c.2280C>T; p.S760S; 3:48420006-48420006 |
skin | malignant_melanoma | Substitution - coding silent |
c.5634G>A; p.E1878E; 3:48410049-48410049 |
skin | malignant_melanoma | Substitution - coding silent |
c.5710delC; p.R1904fs*16; 3:48409973-48409973 |
skin; hip | malignant_melanoma | Deletion - Frameshift |
c.4152C>T; p.N1384N; 3:48414856-48414856 |
skin | malignant_melanoma | Substitution - coding silent |
c.5710C>T; p.R1904W; 3:48409973-48409973 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3816C>T; p.V1272V; 3:48415326-48415326 |
skin | malignant_melanoma | Substitution - coding silent |
c.1244G>A; p.G415E; 3:48422811-48422811 |
skin | malignant_melanoma | Substitution - Missense |
c.5584C>A; p.Q1862K; 3:48410317-48410317 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.1599T>A; p.C533*; 3:48421728-48421728 |
small_intestine | carcinoid-endocrine_tumour | Substitution - Nonsense |
c.68T>G; p.L23R; 3:48424544-48424544 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.3091C>T; p.R1031C; 3:48418322-48418322 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.4403T>C; p.L1468S; 3:48413802-48413802 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1094C>T; p.A365V; 3:48423518-48423518 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3236C>T; p.T1079I; 3:48418049-48418049 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2373G>A; p.P791P; 3:48419913-48419913 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5061C>T; p.L1687L; 3:48412277-48412277 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4013G>A; p.R1338H; 3:48414995-48414995 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4517T>C; p.I1506T; 3:48413688-48413688 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4517T>C; p.I1506T; 3:48413688-48413688 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.682G>A; p.A228T; 3:48423930-48423930 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3067T>C; p.S1023P; 3:48418346-48418346 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5605+1G>A; p.?; 3:48410295-48410295 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.4245G>T; p.E1415D; 3:48414036-48414036 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.6096G>A; p.P2032P; 3:48407083-48407083 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2578G>A; p.A860T; 3:48419708-48419708 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1153C>T; p.P385S; 3:48422902-48422902 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1122T>G; p.A374A; 3:48422933-48422933 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4675C>A; p.L1559M; 3:48412921-48412921 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4714G>A; p.A1572T; 3:48412882-48412882 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5842C>T; p.P1948S; 3:48409668-48409668 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4321G>A; p.V1441M; 3:48413960-48413960 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3143G>A; p.R1048H; 3:48418270-48418270 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5860T>G; p.F1954V; 3:48409650-48409650 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.4888T>C; p.S1630P; 3:48412587-48412587 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4880G>A; p.R1627H; 3:48412595-48412595 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.4368C>G; p.D1456E; 3:48413913-48413913 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2613T>G; p.G871G; 3:48419673-48419673 |
thyroid | other; neoplasm | Substitution - coding silent |
c.4978C>G; p.L1660V; 3:48412497-48412497 |
thyroid | carcinoma | Substitution - Missense |
c.3208C>G; p.P1070A; 3:48418205-48418205 |
thyroid | carcinoma | Substitution - Missense |
c.1344G>A; p.Q448Q; 3:48422406-48422406 |
thyroid | other; neoplasm | Substitution - coding silent |
c.6007G>A; p.D2003N; 3:48409409-48409409 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6007G>A; p.D2003N; 3:48409409-48409409 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.3564G>A; p.L1188L; 3:48416084-48416084 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1407G>A; p.M469I; 3:48422343-48422343 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1407G>A; p.M469I; 3:48422343-48422343 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.3888C>T; p.P1296P; 3:48415254-48415254 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3374G>T; p.S1125I; 3:48417911-48417911 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6246C>T; p.L2082L; 3:48405781-48405781 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.4908C>T; p.Y1636Y; 3:48412567-48412567 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1413G>A; p.Q471Q; 3:48422337-48422337 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.746C>T; p.S249F; 3:48423866-48423866 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.6118C>T; p.R2040W; 3:48407061-48407061 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.6118C>T; p.R2040W; 3:48407061-48407061 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.6118C>T; p.R2040W; 3:48407061-48407061 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4544G>A; p.S1515N; 3:48413161-48413161 |
urinary_tract; bladder | carcinoma | Substitution - Missense |